Canonical Allele Identifier: CA414840102
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706093G>A , CM000686.2:g.19706093G>A GRCh38
NC_000024.9:g.21867979G>A , CM000686.1:g.21867979G>A GRCh37
NC_000024.8:g.20327367G>A NCBI36
NG_032920.1:g.43847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4522C>T MANE Select ENSP00000322408.4:p.Gln1508Ter
ENST00000317961.8:c.4522C>T ENSP00000322408.4:p.Gln1508Ter
ENST00000382806.6:c.4351C>T ENSP00000372256.2:p.Gln1451Ter
ENST00000440077.5:c.4399C>T ENSP00000398543.1:p.Gln1467Ter
ENST00000469599.6:n.3273C>T
ENST00000492117.1:n.4567C>T
ENST00000541639.5:c.4615C>T ENSP00000444293.1:p.Gln1539Ter
NM_001146705.1:c.4615C>T NP_001140177.1:p.Gln1539Ter
NM_001146706.1:c.4351C>T NP_001140178.1:p.Gln1451Ter
NM_004653.4:c.4522C>T NP_004644.2:p.Gln1508Ter
XM_005262560.1:c.4387C>T XP_005262617.1:p.Gln1463Ter
XM_005262561.1:c.4291C>T XP_005262618.1:p.Gln1431Ter
XM_011531468.1:c.4444C>T XP_011529770.1:p.Gln1482Ter
XR_430568.2:n.5297C>T
XM_005262560.3:c.4387C>T XP_005262617.1:p.Gln1463Ter
XM_005262561.3:c.4291C>T XP_005262618.1:p.Gln1431Ter
XM_011531468.3:c.4444C>T XP_011529770.1:p.Gln1482Ter
XM_024452495.1:c.2512C>T XP_024308263.1:p.Gln838Ter
XM_024452496.1:c.2278C>T XP_024308264.1:p.Gln760Ter
XR_001756009.2:n.5260C>T
XR_001756010.2:n.5228C>T
XR_001756011.2:n.5125C>T
XR_001756012.2:n.5273C>T
XR_001756013.2:n.4591C>T
XR_002958832.1:n.4845C>T
XR_002958834.1:n.4916C>T
XR_002958835.1:n.4799C>T
XR_002958836.1:n.5450C>T
XR_002958837.1:n.5257C>T
XR_244571.4:n.4777C>T
XR_430568.4:n.5296C>T
NM_001146706.2:c.4351C>T NP_001140178.1:p.Gln1451Ter
NM_004653.5:c.4522C>T MANE Select NP_004644.2:p.Gln1508Ter
NM_001146705.2:c.4615C>T NP_001140177.1:p.Gln1539Ter